Ann Rheum Dis:特发性炎症性肌病的遗传性

2021-10-20 xiangting MedSci原创

IIM具有家族遗传成分,在一级亲属中有家族聚集风险。

特发性炎症性肌病(IIM)是一组系统性自身免疫性结缔组织病,基于其临床及免疫病理特点主要分为多发性肌炎、皮肌炎和包涵体肌炎3种亚型,其中以多发性肌炎和皮肌炎最为常见。临床表现为以四肢近端肌无力为主的骨骼肌非化脓性炎症,迄今为止IIM的确切发病机制尚不清楚,其病因可能与感染(如病毒、弓形体等)、遗传因素及免疫功能异常等有关。

遗传对特发性炎症性肌病 (IIM) 的影响有多大目前尚不清楚。这项发表在风湿病领域顶级期刊Ann Rheum Dis上的研究分析了IIM 的家族聚集情况及其遗传性。

                                             

这是一项基于家庭的研究,使用瑞典全国医疗保健登记数据。将IIM 患者与非IIM患者进行匹配,查找他们的一级亲属并确定所有一级亲属是否患有IIM。使用条件logistic 回归估算IIM 家族聚集的调整 OR(aOR)。此外还使用四分相关性来估计 IIM 的遗传力。

研究共纳入1997 年至 2016 年诊断为 IIM 的1620名患者及其7615 名一级亲属,7797 名非IIM 患者及其37309名一级亲属。与非IIM患者相比,IIM患者的一级亲属更有可能患有IIM(aOR=4.32,95% CI 2.00-9.34。此外,所有兄弟姐妹中 IIM 家族聚集的 aOR 为 2.53(95% CI 1.62-3.96)。在一级亲属中IIM 的遗传力为 22%(95% CI 12%-31%),而在兄弟姐妹中为 24%(95% CI 12%-37%)。

                               图:IIM估算遗传力的95%置信区间(灰色区域)

由此可见,IIM具有家族遗传成分,在一级亲属中有家族聚集风险,其遗传力约为20%。这对于未来的病因学研究和临床咨询都很重要。

 

原始出处:

Weng Ian Che. Familial aggregation and heritability: a nationwide family-based study of idiopathic inflammatory myopathies. Ann Rheum Dis. November 2021.

 

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